Canonical Allele Identifier: CA2036500973
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1940406431
gnomAD v4: 12-52451691-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451692del , CM000674.2:g.52451692del GRCh38
NC_000012.11:g.52845476del , CM000674.1:g.52845476del GRCh37
NC_000012.10:g.51131743del NCBI36
NG_008299.1:g.5435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.387del MANE Select ENSP00000252252.3:p.Cys130AlafsTer16
ENST00000252252.3:c.387del ENSP00000252252.3:p.Cys130AlafsTer16
NM_005555.3:c.387del NP_005546.2:p.Cys130AlafsTer16
NM_005555.4:c.387del MANE Select NP_005546.2:p.Cys130AlafsTer16
Search 100 bp 5'
Search 100 bp 3'